FLCN
MIM.607273 17p11.2
Pathology
germline mutation of FLCL in Birt-Hogg-Dube syndrome (MIM.135150)
somatic mutation of FLCL
- in renal cell carcinomas (chromophobe renal cell carcinoma) (#12907635#)
- somatic mutation of FLCL in colorectal adenocarcinoma
germline mutation of FLCL in primary spontaneous pneumothorax (MIM.173600)
Nota bene: Multiple renal tumors of diverse morphology are rare and typically seen in Birt-Hogg-Dubé syndrome. Birt-Hogg-Dubé syndrome is a rare inherited cancer syndrome caused by a germline mutation in the folliculin (FLCN) gene, but the genetic causes for histologic diversity of renal tumors in Birt-Hogg-Dubé syndrome have not been elucidated.
References
Novel intronic germline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms. Gatalica Z, Lilleberg SL, Vranic S, Eyzaguirre E, Orihuela E, Velagaleti G. Hum Pathol. 2009 Dec;40(12):1813-9. PMID: #19733897#
Schmidt LS. Birt-Hogg-Dube syndrome, a genodermatosis that increases risk for renal carcinoma. Curr Mol Med. 2004 Dec;4(8):877-85. PMID: #15579035#
Okimoto K, Kouchi M, Matsumoto I, Sakurai J, Kobayashi T, Hino O. Natural history of the Nihon rat model of BHD. Curr Mol Med. 2004 Dec;4(8):887-93. PMID: #15579036#
Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjold M, Teh BT. Inactivation of BHD in sporadic renal tumors. Cancer Res. 2003 Aug 1;63(15):4583-7. PMID: #12907635#